ERI3

Chr 1

ERI1 exoribonuclease family member 3

Also known as: PINT1, PRNPIP

NCBI Gene: 79033ENSG00000117419UniProt: O43414OMIM: 609917

ERI3 encodes a protein that binds RNA and has low constraint against loss-of-function variants (LOEUF 0.745). Currently, no well-established human diseases have been definitively linked to ERI3 mutations in the medical literature.

OMIMResearchSummary from RefSeq
LOEUF 0.74
Clinical Summary— ERI3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
9 unique Pathogenic / Likely Pathogenic· 32 VUS of 55 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.74LOEUF
pLI 0.004
Z-score 2.35
OE 0.40 (0.22–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
2.20Z-score
OE missense 0.55 (0.46–0.64)
102 obs / 186.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.40 (0.22–0.74)
0≤0.351.4
Missense OE0.55 (0.46–0.64)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 7 / 17.7Missense obs/exp: 102 / 186.7Syn Z: -0.03

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic1
VUS32
8
Pathogenic
1
Likely Pathogenic
32
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
1
0
1
VUS
0
23
9
0
32
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02318041

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ERI3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients